4429[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 3100938	NM_001366282.2(GOLGB1):c.9739A>G (p.Ile3247Val)	GOLGB1 (I3167V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410757	NM_001366282.2(GOLGB1):c.9719G>A (p.Arg3240Gln)	GOLGB1 (R3199Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100937	NM_001366282.2(GOLGB1):c.9712C>T (p.Arg3238Trp)	GOLGB1 (R3158W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353623	NM_001366282.2(GOLGB1):c.9641C>T (p.Thr3214Ile)	GOLGB1 (T3209I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307356	NM_001366282.2(GOLGB1):c.9641C>G (p.Thr3214Arg)	GOLGB1 (T3175R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100936	NM_001366282.2(GOLGB1):c.9626T>G (p.Leu3209Arg)	GOLGB1 (L3169R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284302	NM_001366282.2(GOLGB1):c.9599G>C (p.Gly3200Ala)	GOLGB1 (G3120A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206552	NM_001366282.2(GOLGB1):c.9553C>T (p.Arg3185Trp)	GOLGB1 (R3145W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100935	NM_001366282.2(GOLGB1):c.9548T>A (p.Ile3183Asn)	GOLGB1 (I3142N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345050	NM_001366282.2(GOLGB1):c.9500A>T (p.Asp3167Val)	GOLGB1 (D3128V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100934	NM_001366282.2(GOLGB1):c.9463G>A (p.Val3155Met)	GOLGB1 (V3155M +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602035	NM_001366282.2(GOLGB1):c.9338A>G (p.Asp3113Gly)	GOLGB1 (D3038G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549440	NM_001366282.2(GOLGB1):c.9320C>T (p.Ala3107Val)	GOLGB1 (A3027V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344466	NM_001366282.2(GOLGB1):c.9301C>G (p.Gln3101Glu)	GOLGB1 (Q3056E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333443	NM_001366282.2(GOLGB1):c.9286G>T (p.Ala3096Ser)	GOLGB1 (A3055S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100933	NM_001366282.2(GOLGB1):c.9239G>A (p.Ser3080Asn)	GOLGB1 (S3035N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547848	NM_001366282.2(GOLGB1):c.9085G>T (p.Val3029Phe)	GOLGB1 (V2949F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281941	NM_001366282.2(GOLGB1):c.9058G>A (p.Ala3020Thr)	GOLGB1 (A2981T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523876	NM_001366282.2(GOLGB1):c.9058G>C (p.Ala3020Pro)	GOLGB1 (A3015P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331338	NM_001366282.2(GOLGB1):c.8955G>T (p.Gln2985His)	GOLGB1 (Q2946H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253096	NM_001366282.2(GOLGB1):c.8912T>C (p.Met2971Thr)	GOLGB1 (M2932T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280356	NM_001366282.2(GOLGB1):c.8898A>G (p.Ile2966Met)	GOLGB1 (I2921M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280806	NM_001366282.2(GOLGB1):c.8688C>A (p.Asp2896Glu)	GOLGB1 (D2816E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722786	NM_001366282.2(GOLGB1):c.8514C>A (p.Ser2838=)	GOLGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654069	NM_001366282.2(GOLGB1):c.8379C>T (p.Thr2793=)	GOLGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3100932	NM_001366282.2(GOLGB1):c.8350A>G (p.Arg2784Gly)	GOLGB1 (R2743G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100931	NM_001366282.2(GOLGB1):c.8309T>C (p.Leu2770Pro)	GOLGB1 (L2725P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478731	NM_001366282.2(GOLGB1):c.8299G>T (p.Asp2767Tyr)	GOLGB1 (D2722Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100930	NM_001366282.2(GOLGB1):c.8212A>G (p.Ile2738Val)	GOLGB1 (I2697V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281954	NM_001366282.2(GOLGB1):c.8081A>G (p.His2694Arg)	GOLGB1 (H2614R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100929	NM_001366282.2(GOLGB1):c.8032G>C (p.Val2678Leu)	GOLGB1 (V2598L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460702	NM_001366282.2(GOLGB1):c.8023G>A (p.Ala2675Thr)	GOLGB1 (A2634T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281950	NM_001366282.2(GOLGB1):c.7961C>G (p.Ser2654Cys)	GOLGB1 (S2613C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100926	NM_001366282.2(GOLGB1):c.7907A>G (p.His2636Arg)	GOLGB1 (H2556R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461901	NM_001366282.2(GOLGB1):c.7859C>T (p.Thr2620Ile)	GOLGB1 (T2575I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100925	NM_001366282.2(GOLGB1):c.7775G>A (p.Arg2592Gln)	GOLGB1 (R2512Q +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606572	NM_001366282.2(GOLGB1):c.7583A>G (p.Asn2528Ser)	GOLGB1 (N2487S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470587	NM_001366282.2(GOLGB1):c.7433G>A (p.Arg2478Gln)	GOLGB1 (R2398Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331710	NM_001366282.2(GOLGB1):c.7403T>G (p.Val2468Gly)	GOLGB1 (V2463G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522566	NM_001366282.2(GOLGB1):c.7400T>G (p.Phe2467Cys)	GOLGB1 (F2428C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281953	NM_001366282.2(GOLGB1):c.7234G>T (p.Asp2412Tyr)	GOLGB1 (D2367Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100922	NM_001366282.2(GOLGB1):c.7184G>T (p.Gly2395Val)	GOLGB1 (G2350V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490466	NM_001366282.2(GOLGB1):c.7152G>A (p.Met2384Ile)	GOLGB1 (M2343I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100921	NM_001366282.2(GOLGB1):c.7108G>A (p.Ala2370Thr)	GOLGB1 (A2329T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100920	NM_001366282.2(GOLGB1):c.7097C>T (p.Thr2366Ile)	GOLGB1 (T2325I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100919	NM_001366282.2(GOLGB1):c.7072A>G (p.Lys2358Glu)	GOLGB1 (K2313E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100918	NM_001366282.2(GOLGB1):c.6988A>G (p.Ser2330Gly)	GOLGB1 (S2291G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100916	NM_001366282.2(GOLGB1):c.6870A>C (p.Glu2290Asp)	GOLGB1 (E2210D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530173	NM_001366282.2(GOLGB1):c.6866G>A (p.Gly2289Glu)	GOLGB1 (G2284E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484025	NM_001366282.2(GOLGB1):c.6797A>G (p.Lys2266Arg)	GOLGB1 (K2221R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281930	NM_001366282.2(GOLGB1):c.6788A>T (p.Glu2263Val)	GOLGB1 (E2183V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315588	NM_001366282.2(GOLGB1):c.6775A>G (p.Ile2259Val)	GOLGB1 (I2214V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456346	NM_001366282.2(GOLGB1):c.6688G>C (p.Glu2230Gln)	GOLGB1 (E2150Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100915	NM_001366282.2(GOLGB1):c.6668C>G (p.Ala2223Gly)	GOLGB1 (A2143G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492498	NM_001366282.2(GOLGB1):c.6667G>A (p.Ala2223Thr)	GOLGB1 (A2178T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553108	NM_001366282.2(GOLGB1):c.6665A>G (p.Asp2222Gly)	GOLGB1 (D2217G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100914	NM_001366282.2(GOLGB1):c.6621C>G (p.Asp2207Glu)	GOLGB1 (D2166E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281933	NM_001366282.2(GOLGB1):c.6587C>G (p.Thr2196Ser)	GOLGB1 (T2155S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100913	NM_001366282.2(GOLGB1):c.6485A>T (p.Glu2162Val)	GOLGB1 (E2157V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281959	NM_001366282.2(GOLGB1):c.6301G>T (p.Ala2101Ser)	GOLGB1 (A2060S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481696	NM_001366282.2(GOLGB1):c.6224G>A (p.Arg2075His)	GOLGB1 (R1995H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281931	NM_001366282.2(GOLGB1):c.6173A>G (p.Gln2058Arg)	GOLGB1 (Q2019R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281947	NM_001366282.2(GOLGB1):c.6167A>C (p.Glu2056Ala)	GOLGB1 (E1976A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281961	NM_001366282.2(GOLGB1):c.6118A>G (p.Ile2040Val)	GOLGB1 (I2035V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602406	NM_001366282.2(GOLGB1):c.6009G>C (p.Gln2003His)	GOLGB1 (Q1958H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621576	NM_001366282.2(GOLGB1):c.5777A>T (p.Asp1926Val)	GOLGB1 (D1887V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381952	NM_001366282.2(GOLGB1):c.5755A>G (p.Thr1919Ala)	GOLGB1 (T1878A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225188	NM_001366282.2(GOLGB1):c.5741C>T (p.Thr1914Ile)	GOLGB1 (T1869I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535043	NM_001366282.2(GOLGB1):c.5731T>C (p.Ser1911Pro)	GOLGB1 (S1866P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281951	NM_001366282.2(GOLGB1):c.5534A>C (p.Gln1845Pro)	GOLGB1 (Q1806P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329979	NM_001366282.2(GOLGB1):c.5510A>G (p.His1837Arg)	GOLGB1 (H1757R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400400	NM_001366282.2(GOLGB1):c.5465C>T (p.Ser1822Leu)	GOLGB1 (S1777L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613597	NM_001366282.2(GOLGB1):c.5423T>G (p.Leu1808Arg)	GOLGB1 (L1767R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385101	NM_001366282.2(GOLGB1):c.5363C>T (p.Thr1788Met)	GOLGB1 (T1708M +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281932	NM_001366282.2(GOLGB1):c.5312A>G (p.Asn1771Ser)	GOLGB1 (N1726S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544389	NM_001366282.2(GOLGB1):c.5269C>G (p.Leu1757Val)	GOLGB1 (L1712V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243720	NM_001366282.2(GOLGB1):c.5205G>T (p.Arg1735Ser)	GOLGB1 (R1730S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619178	NM_001366282.2(GOLGB1):c.5140A>G (p.Thr1714Ala)	GOLGB1 (T1673A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266621	NM_001366282.2(GOLGB1):c.5137G>C (p.Asp1713His)	GOLGB1 (D1633H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281952	NM_001366282.2(GOLGB1):c.5126A>C (p.His1709Pro)	GOLGB1 (H1664P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516106	NM_001366282.2(GOLGB1):c.5107C>T (p.Arg1703Trp)	GOLGB1 (R1623W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411975	NM_001366282.2(GOLGB1):c.4863A>C (p.Glu1621Asp)	GOLGB1 (E1580D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473123	NM_001366282.2(GOLGB1):c.4716C>G (p.Ser1572Arg)	GOLGB1 (S1531R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243451	NM_001366282.2(GOLGB1):c.4682A>T (p.Asp1561Val)	GOLGB1 (D1522V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654070	NM_001366282.2(GOLGB1):c.4635G>A (p.Arg1545=)	GOLGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2274882	NM_001366282.2(GOLGB1):c.4565C>T (p.Thr1522Ile)	GOLGB1 (T1477I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289978	NM_001366282.2(GOLGB1):c.4529A>T (p.Glu1510Val)	GOLGB1 (E1430V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548024	NM_001366282.2(GOLGB1):c.4514A>G (p.Lys1505Arg)	GOLGB1 (K1466R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281956	NM_001366282.2(GOLGB1):c.4418C>T (p.Pro1473Leu)	GOLGB1 (P1432L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512684	NM_001366282.2(GOLGB1):c.4409A>T (p.Lys1470Met)	GOLGB1 (K1390M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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